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Last Updated: 01/07/2026
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Found 638 publications
Novel Biallelic Variants in DLD Gene Cause a Reversible Sensory Neuropathy.
Journal: Clinical genetics
Published: June 26, 2025
Genetic variability in maple syrup urine disease: novel mutations and their pathogenicity in the Iranian population.
Journal: Molecular biology reports
Published: June 13, 2025
Adenine base editing rescues disrupted BCKDH function and reduces BCAAs toxic accumulation in maple syrup urine disease patient iPSC-hepatic organoids.
Journal: Stem cell research & therapy
Published: May 14, 2025
The transcription factor RBPJ is required for inflammatory macrophage activation in thoracic aortic dissection by mediating mechanotransduction-induced glycolysis.
Journal: Cellular and molecular life sciences : CMLS
Published: April 20, 2025
Acute encephalopathy in a neonate: a diagnostic odyssey leading to maple syrup urine disease (MSUD).
Acute encephalopathy in a neonate: a diagnostic odyssey leading to maple syrup urine disease (MSUD).
Journal: BMJ case reports
Published: March 25, 2025
Metabolism-related gene PDK1 regulates myocardial cell remodeling and its mechanism.
Journal: Stem cell research & therapy
Published: February 27, 2025
BCKDHA-BCKDHB digenic gene therapy restores metabolic homeostasis in two mouse models and a calf with classic maple syrup urine disease.
Journal: Science translational medicine
Published: February 26, 2025
Short-term methionine deprivation inhibits TCA cycle and regulates macrophage polarization through uncharged tRNA and PDHA1 phosphorylation.
Journal: The Journal of nutritional biochemistry
Published: January 21, 2025
Hepatic Form of Dihydrolipoamide Dehydrogenase Deficiency (DLDD): Phenotypic Spectrum, Laboratory Findings, and Therapeutic Approaches in 52 Patients.
Journal: Journal of inherited metabolic disease
Published: January 03, 2025
Expanding the Genetic Spectrum of PPM1K-Related Maple Syrup Urine Disease: A Novel Mutation.
Journal: American journal of medical genetics. Part A
Published: December 13, 2024
Emerging role of copper in the pathophysiology of spinal cord injury.
Journal: Neural regeneration research
Published: November 20, 2024
Last Updated: 01/07/2026